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Gene correction in S-phase-injected human embryos

Gene correction in S-phase-injected human embryos
Schematic of MYBPC3∆GAGT gene targeting by injection of CRISPR-Cas9 into human zygotes at the S-phase of the cell cycle. MII oocytes were fertilized by sperm from a heterozygous patient with equal numbers of mutant and wild-type spermatozoa. CRISPR-Cas9 was then injected into one-cell zygotes. Embryos at the 4- to 8-cell stage were collected for genetic analysis. Injection during S-phase resulted in mosaic embryos consisting of non-targeted mutant, targeted NHEJ-repaired and targeted HDR-repaired blastomeres.
Mut: mutation; MII: metaphase II; NHEJ: non-homologous end joining; HDR: homology detected repair; WT: wild type.
Reprinted by permission from Macmillan Publishers Ltd: Nature. Ma H, Marti-Gutierrez N, Park SW, et al. Correction of a pathogenic gene mutation in human embryos. Nature 2017; 548:413. Copyright © 2017. www.nature.com/nature.
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